UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52519025C>A | CA384927527 | KRT5 | c.691G>T (p.Asp231Tyr) c.361G>T (p.Asp121Tyr) n.219G>T c.93G>T n.789G>T | |
| 12 | g.52519025C= | CA2036540072 | KRT5 | c.691G= (p.Asp231=) c.361G= (p.Asp121=) n.219G= c.93G= n.789G= | |
| 12 | g.52519025C>G | CA384927528 | KRT5 | c.691G>C (p.Asp231His) c.361G>C (p.Asp121His) n.219G>C c.93G>C n.789G>C | dbSNP |
| 12 | g.52519025C>T | CA384927530 | KRT5 | c.691G>A (p.Asp231Asn) c.361G>A (p.Asp121Asn) n.219G>A c.93G>A n.789G>A | |
| 12 | g.52519026dup | CA645584184 | KRT5 | c.691dup (p.Asp231GlyfsTer29) c.361dup (p.Asp121GlyfsTer29) n.219dup c.93dup n.789dup | COSMIC |
| 12 | g.52519026C>A | CA479848279 | KRT5 | c.690G>T (p.Leu230=) c.360G>T (p.Leu120=) n.218G>T c.92G>T n.788G>T | |
| 12 | g.52519026C>G | CA479848281 | KRT5 | c.690G>C (p.Leu230=) c.360G>C (p.Leu120=) n.218G>C c.92G>C n.788G>C | |
| 12 | g.52519026C>T | CA479848282 | KRT5 | c.690G>A (p.Leu230=) c.360G>A (p.Leu120=) n.218G>A c.92G>A n.788G>A | |
| 12 | g.52519027A>C | CA384927532 | KRT5 | c.689T>G (p.Leu230Arg) c.359T>G (p.Leu120Arg) n.217T>G c.91T>G n.787T>G | |
| 12 | g.52519027A>G | CA384927533 | KRT5 | c.689T>C (p.Leu230Pro) c.359T>C (p.Leu120Pro) n.217T>C c.91T>C n.787T>C | |
| 12 | g.52519027A>T | CA384927535 | KRT5 | c.689T>A (p.Leu230Gln) c.359T>A (p.Leu120Gln) n.217T>A c.91T>A n.787T>A | COSMIC |
| 12 | g.52519028G>A | CA479848283 | KRT5 | c.688C>T (p.Leu230=) c.358C>T (p.Leu120=) n.216C>T c.90C>T n.786C>T | |
| 12 | g.52519028G>C | CA384927537 | KRT5 | c.688C>G (p.Leu230Val) c.358C>G (p.Leu120Val) n.216C>G c.90C>G n.786C>G | gnomAD v4 |
| 12 | g.52519028G>T | CA384927538 | KRT5 | c.688C>A (p.Leu230Met) c.358C>A (p.Leu120Met) n.216C>A c.90C>A n.786C>A | |
| 12 | g.52519029C>A | CA384927540 | KRT5 | c.687G>T (p.Gln229His) c.357G>T (p.Gln119His) n.215G>T c.89G>T n.785G>T | |
| 12 | g.52519029C= | CA2036540073 | KRT5 | c.687G= (p.Gln229=) c.357G= (p.Gln119=) n.215G= c.89G= n.785G= | |
| 12 | g.52519029C>G | CA384927542 | KRT5 | c.687G>C (p.Gln229His) c.357G>C (p.Gln119His) n.215G>C c.89G>C n.785G>C | |
| 12 | g.52519029C>T | CA479848284 | KRT5 | c.687G>A (p.Gln229=) c.357G>A (p.Gln119=) n.215G>A c.89G>A n.785G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519030T>A | CA384927547 | KRT5 | c.686A>T (p.Gln229Leu) c.356A>T (p.Gln119Leu) n.214A>T c.88A>T n.784A>T | |
| 12 | g.52519030T>C | CA384927545 | KRT5 | c.686A>G (p.Gln229Arg) c.356A>G (p.Gln119Arg) n.214A>G c.88A>G n.784A>G | |
| 12 | g.52519030T>G | CA384927544 | KRT5 | c.686A>C (p.Gln229Pro) c.356A>C (p.Gln119Pro) n.214A>C c.88A>C n.784A>C | |
| 12 | g.52519031G>A | CA384927549 | KRT5 | c.685C>T (p.Gln229Ter) c.355C>T (p.Gln119Ter) n.213C>T c.87C>T n.783C>T | |
| 12 | g.52519031G>C | CA384927550 | KRT5 | c.685C>G (p.Gln229Glu) c.355C>G (p.Gln119Glu) n.213C>G c.87C>G n.783C>G | |
| 12 | g.52519031G>T | CA384927552 | KRT5 | c.685C>A (p.Gln229Lys) c.355C>A (p.Gln119Lys) n.213C>A c.87C>A n.783C>A | |
| 12 | g.52519032C>A | CA384927553 | KRT5 | c.684G>T (p.Arg228Ser) c.354G>T (p.Arg118Ser) n.212G>T c.86G>T n.782G>T | |
| 12 | g.52519032C>G | CA384927554 | KRT5 | c.684G>C (p.Arg228Ser) c.354G>C (p.Arg118Ser) n.212G>C c.86G>C n.782G>C | |
| 12 | g.52519032C>T | CA479848288 | KRT5 | c.684G>A (p.Arg228=) c.354G>A (p.Arg118=) n.212G>A c.86G>A n.782G>A | |
| 12 | g.52519033C>A | CA384927555 | KRT5 | c.683G>T (p.Arg228Met) c.353G>T (p.Arg118Met) n.211G>T c.85G>T n.781G>T | |
| 12 | g.52519033C= | CA2036540074 | KRT5 | c.683G= (p.Arg228=) c.353G= (p.Arg118=) n.211G= c.85G= n.781G= | |
| 12 | g.52519033C>G | CA384927557 | KRT5 | c.683G>C (p.Arg228Thr) c.353G>C (p.Arg118Thr) n.211G>C c.85G>C n.781G>C | |
| 12 | g.52519033C>T | CA384927559 | KRT5 | c.683G>A (p.Arg228Lys) c.353G>A (p.Arg118Lys) n.211G>A c.85G>A n.781G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.52519034T>A | CA384927560 | KRT5 | c.682A>T (p.Arg228Trp) c.352A>T (p.Arg118Trp) n.210A>T c.84A>T n.780A>T | |
| 12 | g.52519034T>C | CA384927561 | KRT5 | c.682A>G (p.Arg228Gly) c.352A>G (p.Arg118Gly) n.210A>G c.84A>G n.780A>G | |
| 12 | g.52519034T>G | CA479848290 | KRT5 | c.682A>C (p.Arg228=) c.352A>C (p.Arg118=) n.210A>C c.84A>C n.780A>C | dbSNP gnomAD v4 |
| 12 | g.52519034T= | CA2036540075 | KRT5 | c.682A= (p.Arg228=) c.352A= (p.Arg118=) n.210A= c.84A= n.780A= | |
| 12 | g.52519035C>A | CA384927563 | KRT5 | c.681G>T (p.Arg227Ser) c.351G>T (p.Arg117Ser) n.209G>T c.83G>T n.779G>T | |
| 12 | g.52519035C= | CA2036540076 | KRT5 | c.681G= (p.Arg227=) c.351G= (p.Arg117=) n.209G= c.83G= n.779G= | |
| 12 | g.52519035C>G | CA384927564 | KRT5 | c.681G>C (p.Arg227Ser) c.351G>C (p.Arg117Ser) n.209G>C c.83G>C n.779G>C | |
| 12 | g.52519035C>T | CA6582780 | KRT5 | c.681G>A (p.Arg227=) c.351G>A (p.Arg117=) n.209G>A c.83G>A n.779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519036C>A | CA384927568 | KRT5 | c.680G>T (p.Arg227Met) c.350G>T (p.Arg117Met) n.208G>T c.82G>T n.778G>T | |
| 12 | g.52519036C>G | CA384927566 | KRT5 | c.680G>C (p.Arg227Thr) c.350G>C (p.Arg117Thr) n.208G>C c.82G>C n.778G>C | |
| 12 | g.52519036C>T | CA384927567 | KRT5 | c.680G>A (p.Arg227Lys) c.350G>A (p.Arg117Lys) n.208G>A c.82G>A n.778G>A | |
| 12 | g.52519037T>A | CA384927569 | KRT5 | c.679A>T (p.Arg227Trp) c.349A>T (p.Arg117Trp) n.207A>T c.81A>T n.777A>T | |
| 12 | g.52519037T>C | CA384927570 | KRT5 | c.679A>G (p.Arg227Gly) c.349A>G (p.Arg117Gly) n.207A>G c.81A>G n.777A>G | gnomAD v4 |
| 12 | g.52519037T>G | CA479848294 | KRT5 | c.679A>C (p.Arg227=) c.349A>C (p.Arg117=) n.207A>C c.81A>C n.777A>C | |
| 12 | g.52519038G>A | CA6582781 | KRT5 | c.678C>T (p.Leu226=) c.348C>T (p.Leu116=) n.206C>T c.80C>T n.776C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52519038G>C | CA479848296 | KRT5 | c.678C>G (p.Leu226=) c.348C>G (p.Leu116=) n.206C>G c.80C>G n.776C>G | |
| 12 | g.52519038G= | CA2036540077 | KRT5 | c.678C= (p.Leu226=) c.348C= (p.Leu116=) n.206C= c.80C= n.776C= | |
| 12 | g.52519038G>T | CA479848295 | KRT5 | c.678C>A (p.Leu226=) c.348C>A (p.Leu116=) n.206C>A c.80C>A n.776C>A | |
| 12 | g.52519039A>C | CA384927573 | KRT5 | c.677T>G (p.Leu226Arg) c.347T>G (p.Leu116Arg) n.205T>G c.79T>G n.775T>G |